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Autistic Disorder: A 20 Year Chronicle
Autistic Disorder: A 20 Year Chronicle
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Autistic Disorder: A 20 Year Chronicle

Skinner, Cindy ; Pauly, Rini ; Skinner, Steven A. ; Schroer, Richard J. ; Simensen, Richard J. ; Taylor, Harold A. ; Friez, Michael J. ; DuPont, Barbara R. ; Stevenson, Roger E.

Journal of autism and developmental disorders, 2021-02, Vol.51 (2), p.677-684 [Periódico revisado por pares]

New York: Springer US

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2
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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3
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

Merritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey L

Genes, 2024-05, Vol.15 (5), p.594 [Periódico revisado por pares]

Switzerland: MDPI AG

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4
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

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6
Natural history of Christianson syndrome
Natural history of Christianson syndrome
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Natural history of Christianson syndrome

Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S. ; Matheus, Maria Giselle ; Griesemer, David A. ; Friez, Michael J. ; Fan, Jane Zheng ; Simensen, Richard J. ; Strømme, Petter ; Stevenson, Roger E. ; Stratton, Michael R. ; Schwartz, Charles E.

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2775-2783 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Sajan, Samin A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Gibbs, Richard A. ; Lupski, James R. ; Glaze, Daniel G. ; Kaufmann, Walter E. ; Skinner, Steven A. ; Annese, Fran ; Friez, Michael J. ; Lane, Jane ; Percy, Alan K. ; Neul, Jeffrey L.

Genetics in medicine, 2017-01, Vol.19 (1), p.13-19 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12
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Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Louie, Raymond J. ; Friez, Michael J. ; Skinner, Cindy ; Baraitser, Michael ; Clark, Robin D. ; Schwartz, Charles E. ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.595-596 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Demain, Leigh ; Dominguez-Garrido, Elena ; Kaat, Laura Donker ; Houge, Sofia Douzgou ; DuPont, Barbara R. ; Fee, Timothy ; Fletcher, Robin S. ; Gokhale, David ; Haukanes, Bjørn Ivar ; Henneman, Peter ; Hilton, Sarah ; Hilton, Benjamin A. ; Jenkinson, Sarah ; Lee, Jennifer A. ; Louie, Raymond J. ; Motazacker, M. Mahdi ; Rzasa, Jessica ; Stevenson, Roger E. ; Plomp, Astrid ; van der Laan, Liselot ; van der Smagt, Jasper ; Walden, Kellie K. ; Banka, Siddharth ; Mannens, Marcel ; Skinner, Steven A. ; Friez, Michael J. ; Campbell, Christopher ; Tedder, Matthew L. ; Alders, Marielle ; Sadikovic, Bekim

Genetics in medicine, 2024-05, Vol.26 (5), p.101075-101075, Article 101075 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Hijazi, Hadia ; Coelho, Fernanda S. ; Gonzaga‐Jauregui, Claudia ; Bernardini, Laura ; Mar, Soe S. ; Manning, Melanie A. ; Hanson‐Kahn, Andrea ; Naidu, SakkuBai ; Srivastava, Siddharth ; Lee, Jennifer A. ; Jones, Julie R. ; Friez, Michael J. ; Alberico, Thomas ; Torres, Barbara ; Fang, Ping ; Cheung, Sau Wai ; Song, Xiaofei ; Davis‐Williams, Angelique ; Jornlin, Carly ; Wight, Patricia A. ; Patyal, Pankaj ; Taube, Jennifer ; Poretti, Andrea ; Inoue, Ken ; Zhang, Feng ; Pehlivan, Davut ; Carvalho, Claudia M. B. ; Hobson, Grace M. ; Lupski, James R.

Human mutation, 2020-01, Vol.41 (1), p.150-168 [Periódico revisado por pares]

United States: Hindawi Limited

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